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Molecular Genetics and Metabolism
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December 23, 2017
Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling
Kevin E Glinton, Paul J Benke, Matthew A Lines, et al.
Genetics in Medicine Open
|
December 13, 2024
Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population
Teresa Campbell, Jesse Slone, Hallie Metzger, et al.
JIMD Reports
|
June 17, 2016
Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency
Amanda Smith, Skye McBride, Julien L Marcadier, et al.
European Journal of Human Genetics : EJHG
|
June 22, 2017
Yunis-Varón syndrome caused by biallelic VAC14 mutations
Matthew A Lines, Yoko Ito, Kristin D Kernohan, et al.
European Journal of Human Genetics : EJHG
|
November 26, 2015
DNM1L-related mitochondrial fission defect presenting as refractory epilepsy
Jason R Vanstone, Amanda M Smith, Skye McBride, et al.
CMAJ : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne
|
June 1, 2016
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit
Hussein Daoud, Stephanie M Luco, Rui Li, et al.
Molecular Genetics and Metabolism
|
September 5, 2018
FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mohammed Almannai, Julia Wang, Hongzheng Dai, et al.
American Journal of Medical Genetics. Part A
|
September 24, 2018
Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations
Mirna Assoum, Matthew A Lines, Orly Elpeleg, et al.
American Journal of Human Genetics
|
February 7, 2012
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly
Matthew A Lines, Lijia Huang, Jeremy Schwartzentruber, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
August 8, 2019
Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians
Karen Paik, Matthew A Lines, Pranesh Chakraborty, et al.
Page
of 7
Search research articles
Search
Showing results (51-60 of 67) with videos related to
Sort By:
Page
of 7
Molecular Genetics and Metabolism
|
December 23, 2017
Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling
Kevin E Glinton, Paul J Benke, Matthew A Lines, et al.
Genetics in Medicine Open
|
December 13, 2024
Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population
Teresa Campbell, Jesse Slone, Hallie Metzger, et al.
JIMD Reports
|
June 17, 2016
Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency
Amanda Smith, Skye McBride, Julien L Marcadier, et al.
European Journal of Human Genetics : EJHG
|
June 22, 2017
Yunis-Varón syndrome caused by biallelic VAC14 mutations
Matthew A Lines, Yoko Ito, Kristin D Kernohan, et al.
European Journal of Human Genetics : EJHG
|
November 26, 2015
DNM1L-related mitochondrial fission defect presenting as refractory epilepsy
Jason R Vanstone, Amanda M Smith, Skye McBride, et al.
CMAJ : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne
|
June 1, 2016
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit
Hussein Daoud, Stephanie M Luco, Rui Li, et al.
Molecular Genetics and Metabolism
|
September 5, 2018
FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mohammed Almannai, Julia Wang, Hongzheng Dai, et al.
American Journal of Medical Genetics. Part A
|
September 24, 2018
Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations
Mirna Assoum, Matthew A Lines, Orly Elpeleg, et al.
American Journal of Human Genetics
|
February 7, 2012
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly
Matthew A Lines, Lijia Huang, Jeremy Schwartzentruber, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
August 8, 2019
Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians
Karen Paik, Matthew A Lines, Pranesh Chakraborty, et al.
Page
of 7